UniProtKB - Q00604 (NDP_HUMAN)

BLAST

>sp|Q00604|NDP_HUMAN Norrin OS=Homo sapiens OX=9606 GN=NDP PE=1 SV=1
MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMV
LLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATY
RYILSCHCEECNS

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History
Entry version 166 (12 Sep 2018)
Sequence version 1 (01 Jun 1994)
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Protein

Norrin

Gene

NDP

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.

GO - Molecular functionⁱ

cytokine activity Source: GO_Central
frizzled binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 17955262
growth factor activity
Source: ProtInc
Traceable author statementⁱ
- 8298646
protein homodimerization activity
Source: BHF-UCL
Inferred from physical interactionⁱ
- 17955262

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

canonical Wnt signaling pathway
Source: BHF-UCL
Inferred from direct assayⁱ
- 15035989
cell-cell signaling
Source: ProtInc
Traceable author statementⁱ
- 8298646
cell proliferation
Source: ProtInc
Traceable author statementⁱ
- 8298646
extracellular matrix-cell signaling Source: Ensembl
nervous system development
Source: ProtInc
Traceable author statementⁱ
- 8252044
placenta development Source: Ensembl
positive regulation of DNA-binding transcription factor activity Source: Ensembl
positive regulation of transcription, DNA-templated
Source: BHF-UCL
Inferred from direct assayⁱ
- 15035989
- 17955262
retina vasculature morphogenesis in camera-type eye Source: Ensembl
sensory perception of sound
Source: ProtInc
Non-traceable author statementⁱ
- 8298646
signal transduction
Source: ProtInc
Traceable author statementⁱ
- 8298646
vacuole organization
Source: ProtInc
Traceable author statementⁱ
- 10484772
visual perception
Source: ProtInc
Traceable author statementⁱ
- 10484772
Wnt signaling pathway
Source: BHF-UCL
Inferred from direct assayⁱ
- 17955262

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Sensory transduction, Vision, Wnt signaling pathway

Biological process

Sensory transduction, Vision, Wnt signaling pathway

Enzyme and pathway databases

SIGNORⁱ	Q00604

SIGNORⁱ

Q00604

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Norrin Alternative name(s): Norrie disease protein X-linked exudative vitreoretinopathy 2 protein
Gene namesⁱ	Name:NDP Synonyms:EVR2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000124479.8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7678 NDP
MIMⁱ	300658 gene
neXtProtⁱ	NX_Q00604

Keywords - Cellular componentⁱ

Secreted

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Norrie disease (ND)28 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionRecessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.

Vitreoretinopathy, exudative 2 (EVR2)7 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_063998	18	I → K in EVR2; the patient presented significant phenotypic heterogeneity between the two eyes. 1 Publication	1
Natural variantⁱVAR_005480	41	R → K in EVR2. 1 Publication	1
Natural variantⁱVAR_005481	42	H → R in EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894874EnsemblClinVar.	1
Natural variantⁱVAR_064005	54	K → N in EVR2. 1 Publication	1
Natural variantⁱVAR_064007	61	L → I in EVR2. 1 Publication	1
Natural variantⁱVAR_064017	103	L → V in EVR2. 1 Publication	1
Natural variantⁱVAR_064022	115	R → L in EVR2. 1 Publication	1
Natural variantⁱVAR_005499	120	Y → C in EVR2. 1 Publication	1
Natural variantⁱVAR_005500	121	R → G in EVR2.	1
Natural variantⁱVAR_064024	121	R → L in EVR2. 1 PublicationCorresponds to variant dbSNP:rs137852220EnsemblClinVar.	1
Natural variantⁱVAR_005505	124	L → F in EVR2. 1 PublicationCorresponds to variant dbSNP:rs28933684EnsemblClinVar.	1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	95	C → A: Impairs oligomerization. 1 Publication		1

Keywords - Diseaseⁱ

Deafness, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	4693
GeneReviewsⁱ	NDP
MalaCards human disease database More...MalaCardsⁱ	NDP
MIMⁱ	305390 phenotype 310600 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000124479
Orphanetⁱ	190 Coats disease 891 Familial exudative vitreoretinopathy 649 Norrie disease 91495 Persistent hyperplastic primary vitreous 90050 Retinopathy of prematurity
PharmGKBⁱ	PA31481

Polymorphism and mutation databases

BioMutaⁱ	NDP
DMDMⁱ	548342

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 24	Sequence analysisAdd BLAST		24
ChainⁱPRO_0000021794	25 – 133	NorrinAdd BLAST		109

Amino acid modifications

Feature key	Position(s)	DescriptionActions
Disulfide bondⁱ	39 ↔ 96	1 Publication
Disulfide bondⁱ	55 ↔ 110	1 Publication
Disulfide bondⁱ	65 ↔ 126	1 Publication
Disulfide bondⁱ	69 ↔ 128	1 Publication
Disulfide bondⁱ	93	Interchain (with C-95)1 Publication
Disulfide bondⁱ	95	Interchain (with C-93)1 Publication
Disulfide bondⁱ	131	Interchain1 Publication

Keywords - PTMⁱ

Disulfide bond

Proteomic databases

PaxDbⁱ	Q00604
PeptideAtlas More...PeptideAtlasⁱ	Q00604
PRIDEⁱ	Q00604
ProteomicsDBⁱ	57861

PTM databases

iPTMnetⁱ	Q00604
PhosphoSitePlusⁱ	Q00604

Expressionⁱ

Tissue specificityⁱ

Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000124479 Expressed in 133 organ(s), highest expression level in decidua
CleanExⁱ	HS_NDP
Genevisibleⁱ	Q00604 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA003095

HPAⁱ

HPA003095

Interactionⁱ

Subunit structureⁱ

Homodimer; disulfide-linked. Component of a complex, at least composed of TSPAN12, FZD4, LRP5/6 and norrin (NDP). Binds FZD4 with high affinity. Interacts with LRP6 (via Beta-propellers 1 and 2).1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
FZD4	Q9ULV1	4	EBI-2466352,EBI-2466380

With

Entry

#Exp.

IntAct

Notes

FZD4

Q9ULV1

EBI-2466352,EBI-2466380

GO - Molecular functionⁱ

cytokine activity Source: GO_Central
frizzled binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 17955262
growth factor activity
Source: ProtInc
Traceable author statementⁱ
- 8298646
protein homodimerization activity
Source: BHF-UCL
Inferred from physical interactionⁱ
- 17955262

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	110773, 27 interactors
IntActⁱ	Q00604, 4 interactors
STRINGⁱ	9606.ENSP00000367301

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	37 – 48	Combined sources	12
Beta strandⁱ	51 – 53	Combined sources	3
Beta strandⁱ	58 – 67	Combined sources	10
Beta strandⁱ	73 – 77	Combined sources	5
Beta strandⁱ	80 – 83	Combined sources	4
Beta strandⁱ	89 – 92	Combined sources	4
Beta strandⁱ	94 – 110	Combined sources	17
Turnⁱ	111 – 113	Combined sources	3
Beta strandⁱ	115 – 133	Combined sources	19

Show more details

3D structure databases

ProteinModelPortalⁱ	Q00604
SMRⁱ	Q00604
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	39 – 132	CTCKPROSITE-ProRule annotationAdd BLAST		94

Keywords - Domainⁱ

Signal

Phylogenomic databases

eggNOGⁱ	ENOG410IR8E Eukaryota ENOG4111RWI LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000004304
HOGENOMⁱ	HOG000030892
HOVERGENⁱ	HBG004945
InParanoidⁱ	Q00604
OMAⁱ	KQPFRST
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0TKF
PhylomeDBⁱ	Q00604

Family and domain databases

Gene3Dⁱ	2.10.90.10, 1 hit
InterProⁱ	View protein in InterPro IPR006207 Cys_knot_C IPR029034 Cystine-knot_cytokine IPR006208 Glyco_hormone_CN IPR003064 Norrie_dis
PANTHERⁱ	PTHR28611 PTHR28611, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00007 Cys_knot, 1 hit
PRINTSⁱ	PR01304 NORRIEDSEASE
SMARTⁱ	View protein in SMART SM00041 CT, 1 hit
PROSITEⁱ	View protein in PROSITE PS01185 CTCK_1, 1 hit PS01225 CTCK_2, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

Q00604-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MRKHVLAASF SMLSLLVIMG DTDSKTDSSF IMDSDPRRCM RHHYVDSISH 
        60         70         80         90        100
PLYKCSSKMV LLARCEGHCS QASRSEPLVS FSTVLKQPFR SSCHCCRPQT 
       110        120        130 
SKLKALRLRC SGGMRLTATY RYILSCHCEE CNS

Length:133

Mass (Da):15,044

Last modified:June 1, 1994 - v1

Checksum:ⁱD219E8B7F957286A

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_005478	13	L → R in ND. 1 PublicationCorresponds to variant dbSNP:rs104894879EnsemblClinVar.	1
Natural variantⁱVAR_016048	16	L → P in ND. 1 Publication	1
Natural variantⁱVAR_063998	18	I → K in EVR2; the patient presented significant phenotypic heterogeneity between the two eyes. 1 Publication	1
Natural variantⁱVAR_034137	23	D → E. Corresponds to variant dbSNP:rs5952410EnsemblClinVar.	1
Natural variantⁱVAR_063999	38	R → C in ND and EVR2. 2 Publications	1
Natural variantⁱVAR_005479	39	C → R in ND. 2 Publications	1
Natural variantⁱVAR_005480	41	R → K in EVR2. 1 Publication	1
Natural variantⁱVAR_064000	41	R → S in persistent fetal vasculature syndrome. 1 Publication	1
Natural variantⁱVAR_005481	42	H → R in EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894874EnsemblClinVar.	1
Natural variantⁱVAR_064001	43	H → Q in ND. 1 Publication	1
Natural variantⁱVAR_064002	43	H → R in ND. 1 Publication	1
Natural variantⁱVAR_005482	44	Y → C in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894870EnsemblClinVar.	1
Natural variantⁱVAR_064003	45	V → E in ND. 1 PublicationCorresponds to variant dbSNP:rs137852221EnsemblClinVar.	1
Natural variantⁱVAR_064004	45	V → M in ND. 1 Publication	1
Natural variantⁱVAR_064005	54	K → N in EVR2. 1 Publication	1
Natural variantⁱVAR_064006	55	C → R in ND. 1 Publication	1
Natural variantⁱVAR_005483	58	K → N in ND and EVR2. 2 Publications	1
Natural variantⁱVAR_005484	60	V → E in ND; reduction of protein amount in the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs104894869EnsemblClinVar.	1
Natural variantⁱVAR_005485	61	L → F in ND. 2 PublicationsCorresponds to variant dbSNP:rs104894880EnsemblClinVar.	1
Natural variantⁱVAR_064007	61	L → I in EVR2. 1 Publication	1
Natural variantⁱVAR_005486	61	L → P in ND. 1 Publication	1
Natural variantⁱVAR_005487	63	A → D in ND. 1 Publication	1
Natural variantⁱVAR_005490	65	C → W in ND. 1 Publication	1
Natural variantⁱVAR_005488	65	C → Y in ND. 2 Publications	1
Natural variantⁱVAR_064008	67	G → E in ND. 1 Publication	1
Natural variantⁱVAR_064009	67	G → R in ND. 1 Publication	1
Natural variantⁱVAR_005489	69	C → S in ND. 1 PublicationCorresponds to variant dbSNP:rs104894872EnsemblClinVar.	1
Natural variantⁱVAR_005491	74	R → C in ND. 3 PublicationsCorresponds to variant dbSNP:rs727504031EnsemblClinVar.	1
Natural variantⁱVAR_005492	75	S → C in ND. 1 PublicationCorresponds to variant dbSNP:rs104894868EnsemblClinVar.	1
Natural variantⁱVAR_016049	75	S → P in ND. 1 Publication	1
Natural variantⁱVAR_064010	89	F → L in ND. 1 PublicationCorresponds to variant dbSNP:rs1057520333Ensembl.	1
Natural variantⁱVAR_064011	90	R → C in ND. 1 PublicationCorresponds to variant dbSNP:rs1057518793Ensembl.	1
Natural variantⁱVAR_005494	90	R → P in ND. 1 PublicationCorresponds to variant dbSNP:rs104894867EnsemblClinVar.	1
Natural variantⁱVAR_064012	92	S → P in ND. 1 Publication	1
Natural variantⁱVAR_005495	94 – 96	HCC → QCGL in ND.	3
Natural variantⁱVAR_064013	95	C → F in ND. 1 Publication	1
Natural variantⁱVAR_064014	95	C → R in ND. 1 Publication	1
Natural variantⁱVAR_009275	96	C → W in ND. 1 PublicationCorresponds to variant dbSNP:rs104894877EnsemblClinVar.	1
Natural variantⁱVAR_005496	96	C → Y in ND. 3 PublicationsCorresponds to variant dbSNP:rs104894871EnsemblClinVar.	1
Natural variantⁱVAR_064015	97	R → P in ND. 1 Publication	1
Natural variantⁱVAR_064016	98	P → L in ND. 1 Publication	1
Natural variantⁱVAR_005497	101	S → F in ND. 1 PublicationCorresponds to variant dbSNP:rs104894883EnsemblClinVar.	1
Natural variantⁱVAR_064017	103	L → V in EVR2. 1 Publication	1
Natural variantⁱVAR_064018	104	K → N in ND. 1 Publication	1
Natural variantⁱVAR_005498	104	K → Q in ND. 1 Publication	1
Natural variantⁱVAR_016050	105	A → T in ND. 1 PublicationCorresponds to variant dbSNP:rs104894875EnsemblClinVar.	1
Natural variantⁱVAR_064019	108	L → P in retinopathy of prematurity. 1 Publication	1
Natural variantⁱVAR_016051	110	C → G in ND. 1 PublicationCorresponds to variant dbSNP:rs104894876EnsemblClinVar.	1
Natural variantⁱVAR_064020	110	C → R in ND. 1 Publication	1
Natural variantⁱVAR_064021	112	G → E in ND. 1 Publication	1
Natural variantⁱVAR_064022	115	R → L in EVR2. 1 Publication	1
Natural variantⁱVAR_064023	118	A → D in ND. 1 Publication	1
Natural variantⁱVAR_005499	120	Y → C in EVR2. 1 Publication	1
Natural variantⁱVAR_005503	121 – 123	Missing in ND. 1 Publication	3
Natural variantⁱVAR_005500	121	R → G in EVR2.	1
Natural variantⁱVAR_064024	121	R → L in EVR2. 1 PublicationCorresponds to variant dbSNP:rs137852220EnsemblClinVar.	1
Natural variantⁱVAR_005501	121	R → Q in EVR2 and ND; reduced amount of protein in the extracellular matrix. 4 Publications	1
Natural variantⁱVAR_005502	121	R → W in ND and EVR2. 2 PublicationsCorresponds to variant dbSNP:rs104894878EnsemblClinVar.	1
Natural variantⁱVAR_005504	123	I → N in ND. 1 Publication	1
Natural variantⁱVAR_005505	124	L → F in EVR2. 1 PublicationCorresponds to variant dbSNP:rs28933684EnsemblClinVar.	1
Natural variantⁱVAR_064025	126	C → S in ND. 1 Publication	1
Natural variantⁱVAR_064026	128	C → R in ND. 1 Publication	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X65724 mRNA Translation: CAA46639.1 X65882 mRNA Translation: CAA46713.1 AL034370 Genomic DNA No translation available. AK313409 mRNA Translation: BAG36203.1 BC029901 mRNA Translation: AAH29901.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14262.1
PIRⁱ	A57005
NCBI Reference Sequences More...RefSeqⁱ	NP_000257.1, NM_000266.3
UniGeneⁱ	Hs.522615

Genome annotation databases

Ensemblⁱ	ENST00000378062; ENSP00000367301; ENSG00000124479 ENST00000642620; ENSP00000495972; ENSG00000124479 ENST00000647044; ENSP00000495811; ENSG00000124479
GeneIDⁱ	4693
KEGGⁱ	hsa:4693
UCSC genome browser More...UCSCⁱ	uc004dga.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q00604	Norrin		MACFA		133	UniRef100_Q00604
NDP, norrin cystine knot growth factor		MACMU		133
NDP isoform 1		PONAB		133
NDP, norrin cystine knot growth factor		COLAP		133
NDP, norrin cystine knot growth factor		CERAT		133
+8

Protein	Similar proteins		Species	Score	Length	Source
Q00604	Norrin		MACFA		133	UniRef90_Q00604
Norrin		BOVIN		133
NDP, norrin cystine knot growth factor		MACMU		133
NDP isoform 1		PONAB		133
NDP, norrin cystine knot growth factor		COLAP		133
+72

Protein	Similar proteins		Species	Score	Length	Source
Q00604	Norrin		MACFA		133	UniRef50_Q00604
Norrin		BOVIN		133
NDP, norrin cystine knot growth factor		MACMU		133
NDP isoform 1		PONAB		133
NDP, norrin cystine knot growth factor		COLAP		133
+75

Cross-referencesⁱ

Web resourcesⁱ

Mutations of the NDP gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X65724 mRNA Translation: CAA46639.1 X65882 mRNA Translation: CAA46713.1 AL034370 Genomic DNA No translation available. AK313409 mRNA Translation: BAG36203.1 BC029901 mRNA Translation: AAH29901.1
CCDSⁱ	CCDS14262.1
PIRⁱ	A57005
RefSeqⁱ	NP_000257.1, NM_000266.3
UniGeneⁱ	Hs.522615

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4MY2	X-ray	2.40	A	30-133	[»]
	5BPU	X-ray	2.40	A/B/C/D/E/F	25-133	[»]
	5BQ8	X-ray	2.00	A/B/C/D	25-133	[»]
	5BQB	X-ray	2.30	A/B/C/D	25-133	[»]
	5BQC	X-ray	3.00	A	25-133	[»]
	5BQE	X-ray	2.30	A/B	25-133	[»]
	5CL1	X-ray	3.80	A/B	31-133	[»]
ProteinModelPortalⁱ	Q00604
SMRⁱ	Q00604
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110773, 27 interactors
IntActⁱ	Q00604, 4 interactors
STRINGⁱ	9606.ENSP00000367301

PTM databases

iPTMnetⁱ	Q00604
PhosphoSitePlusⁱ	Q00604

Polymorphism and mutation databases

BioMutaⁱ	NDP
DMDMⁱ	548342

Proteomic databases

PaxDbⁱ	Q00604
PeptideAtlasⁱ	Q00604
PRIDEⁱ	Q00604
ProteomicsDBⁱ	57861

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	4693
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000378062; ENSP00000367301; ENSG00000124479 ENST00000642620; ENSP00000495972; ENSG00000124479 ENST00000647044; ENSP00000495811; ENSG00000124479
GeneIDⁱ	4693
KEGGⁱ	hsa:4693
UCSCⁱ	uc004dga.5 human

Organism-specific databases

CTDⁱ	4693
DisGeNETⁱ	4693
EuPathDBⁱ	HostDB:ENSG00000124479.8
GeneCardsⁱ	NDP
GeneReviewsⁱ	NDP
HGNCⁱ	HGNC:7678 NDP
HPAⁱ	HPA003095
MalaCardsⁱ	NDP
MIMⁱ	300658 gene 305390 phenotype 310600 phenotype
neXtProtⁱ	NX_Q00604
OpenTargetsⁱ	ENSG00000124479
Orphanetⁱ	190 Coats disease 891 Familial exudative vitreoretinopathy 649 Norrie disease 91495 Persistent hyperplastic primary vitreous 90050 Retinopathy of prematurity
PharmGKBⁱ	PA31481
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IR8E Eukaryota ENOG4111RWI LUCA
GeneTreeⁱ	ENSGT00390000004304
HOGENOMⁱ	HOG000030892
HOVERGENⁱ	HBG004945
InParanoidⁱ	Q00604
OMAⁱ	KQPFRST
OrthoDBⁱ	EOG091G0TKF
PhylomeDBⁱ	Q00604

Enzyme and pathway databases

SIGNORⁱ	Q00604

SIGNORⁱ

Q00604

Miscellaneous databases

ChiTaRSⁱ	NDP human
GeneWikiⁱ	Norrin
GenomeRNAiⁱ	4693
Protein Ontology More...PROⁱ	PR:Q00604
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000124479 Expressed in 133 organ(s), highest expression level in decidua
CleanExⁱ	HS_NDP
Genevisibleⁱ	Q00604 HS

Family and domain databases

Gene3Dⁱ	2.10.90.10, 1 hit
InterProⁱ	View protein in InterPro IPR006207 Cys_knot_C IPR029034 Cystine-knot_cytokine IPR006208 Glyco_hormone_CN IPR003064 Norrie_dis
PANTHERⁱ	PTHR28611 PTHR28611, 1 hit
Pfamⁱ	View protein in Pfam PF00007 Cys_knot, 1 hit
PRINTSⁱ	PR01304 NORRIEDSEASE
SMARTⁱ	View protein in SMART SM00041 CT, 1 hit
PROSITEⁱ	View protein in PROSITE PS01185 CTCK_1, 1 hit PS01225 CTCK_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	NDP_HUMAN
Accessionⁱ	Q00604Primary (citable) accession number: Q00604 Secondary accession number(s): B2R8K6, Q5JYH5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
	Last sequence update:	June 1, 1994
	Last modified:	September 12, 2018
	This is version 166 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

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UniParc

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Supporting data

UniProtKB - Q00604 (NDP_HUMAN)

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Norrin

NDP

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted

Extracellular region or secreted

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ